ClinVar Miner

List of variants in gene RAB23 reported as likely benign for RAB23-related Carpenter syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281

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